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Literature DB >> 17309655

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.

P K Yiallouros, V Neocleous, M Zeniou, T Adamidou, C Costi, C Christophi, M Tzetis, E Kanavakis, C Deltas.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2007 PMID： 17309655 DOI： 10.1111/j.1399-0004.2007.00760.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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7 in total

1. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Authors: N Skordis; V Neocleous; A Kyriakou; E Efstathiou; A Sertedaki; P Philibert; L A Phylactou; S Lumbroso; C Sultan
Journal: J Endocrinol Invest Date: 2010-05-28 Impact factor: 4.256

Review 2. Electrolyte abnormalities in cystic fibrosis: systematic review of the literature.

Authors: Elisabetta Scurati-Manzoni; Emilio F Fossali; Carlo Agostoni; Enrica Riva; Giacomo D Simonetti; Maura Zanolari-Calderari; Mario G Bianchetti; Sebastiano A G Lava
Journal: Pediatr Nephrol Date: 2013-12-11 Impact factor: 3.714

Review 3. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors: C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal: J Cyst Fibros Date: 2008-05 Impact factor: 5.482

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.

1. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Review 2. Electrolyte abnormalities in cystic fibrosis: systematic review of the literature.

Review 3. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

4. Prerenal azotemia from excessive sweating in an adult with a cystic fibrosis gene mutation.

5. Medical genetics and genomic medicine in Greece: achievements and challenges.

6. Allele frequency for Cystic fibrosis in Indians vis-a/-vis global populations.

7. Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.